Sickle cell anemia
Sickle cell anemia is one of a group of disorders known as sickle cell disease. Sickle cell anemia is an inherited red blood cell disorder in which there aren’t enough healthy red blood cells to carry oxygen throughout your body.
Normally, the flexible, round red blood cells move easily through blood vessels. In sickle cell anemia, the red blood cells are shaped like sickles or crescent moons. These rigid, sticky cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.
There’s no cure for most people with sickle cell anemia. But treatments can relieve pain and help prevent complications associated with the disease.
Symptoms
Signs and symptoms of sickle cell anemia usually appear around 5 months of age. They vary from person to person and change over time. Signs and symptoms can include:
- Anemia: Sickle cells break apart easily and die, leaving you with too few red blood cells. Red blood cells usually live for about 120 days before they need to be replaced. But sickle cells usually die in 10 to 20 days, leaving a shortage of red blood cells (anemia).
Without enough red blood cells, your body can’t get enough oxygen, causing fatigue.
- Episodes of pain: Periodic episodes of pain, called pain crises, are a major symptom of sickle cell anemia. Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to your chest, abdomen and joints. Pain can also occur in your bones.
The pain varies in intensity and can last for a few hours to a few weeks. Some people have only a few pain crises a year. Others have a dozen or more pain crises a year. A severe pain crisis requires a hospital stay.
Some adolescents and adults with sickle cell anemia also have chronic pain, which can result from bone and joint damage, ulcers, and other causes.
- Swelling of hands and feet: The swelling is caused by sickle-shaped red blood cells blocking blood flow to the hands and feet.
- Frequent infections: Sickle cells can damage your spleen, leaving you more vulnerable to infections. Doctors commonly give infants and children with sickle cell anemia vaccinations and antibiotics to prevent potentially life-threatening infections, such as pneumonia.
- Delayed growth or puberty: Red blood cells provide your body with the oxygen and nutrients needed for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers.
- Vision problems: Tiny blood vessels that supply your eyes can become plugged with sickle cells. This can damage the retina — the portion of the eye that processes visual images — and lead to vision problems.
When to see a doctor
Sickle cell anemia is usually diagnosed in infancy through newborn screening programs. If you or your child develops any of the following problems, see your doctor right away or seek emergency medical care:
- Fever: People with sickle cell anemia have an increased risk of serious infection, and fever can be the first sign of an infection.
- Unexplained episodes of severe pain, such as pain in the abdomen, chest, bones or joints.
- Swelling in the hands or feet.
- Abdominal swelling, especially if the area is tender to the touch.
- Pale skin or nail beds.
- Yellow tint to the skin or whites of the eyes.
- Signs or symptoms of stroke: If you notice one-sided paralysis or weakness in the face, arms or legs; confusion; trouble walking or talking; sudden vision changes or unexplained numbness; or a severe headache, call 911 or your local emergency number right away.
Causes
Sickle cell anemia is caused by a mutation in the gene that tells your body to make the iron-rich compound that makes blood red and enables red blood cells to carry oxygen from your lungs throughout your body (hemoglobin). In sickle cell anemia, the abnormal hemoglobin causes red blood cells to become rigid, sticky and misshapen.
Both mother and father must pass the defective form of the gene for a child to be affected.
If only one parent passes the sickle cell gene to the child, that child will have the sickle cell trait. With one normal hemoglobin gene and one defective form of the gene, people with the sickle cell trait make both normal hemoglobin and sickle cell hemoglobin.
Their blood might contain some sickle cells, but they generally don’t have symptoms. They’re carriers of the disease, however, which means they can pass the gene to their children.
Risk factors
For a baby to be born with sickle cell anemia, both parents must carry a sickle cell gene. In the United States, sickle cell anemia most commonly affects black people.
Complications
Sickle cell anemia can lead to a host of complications, including:
- Stroke: Sickle cells can block blood flow to an area of your brain. Signs of stroke include seizures, weakness or numbness of your arms and legs, sudden speech difficulties, and loss of consciousness. If your child has any of these signs and symptoms, seek medical treatment immediately. A stroke can be fatal.
- Acute chest syndrome: A lung infection or sickle cells blocking blood vessels in your lungs can cause this life-threatening complication, resulting in chest pain, fever and difficulty breathing. It might require emergency medical treatment.
- Pulmonary hypertension: People with sickle cell anemia can develop high blood pressure in their lungs. This complication usually affects adults. Shortness of breath and fatigue are common symptoms of this condition, which can be fatal.
- Organ damage: Sickle cells that block blood flow to organs deprive the affected organs of blood and oxygen. In sickle cell anemia, blood is also chronically low in oxygen. This lack of oxygen-rich blood can damage nerves and organs, including your kidneys, liver and spleen, and can be fatal.
- Sickle cells can block tiny blood vessels that supply your eyes. Over time, this can damage your eye and lead to blindness.
- Leg ulcers: Sickle cell anemia can cause open sores on your legs.
- The breakdown of red blood cells produces a substance called bilirubin. A high level of bilirubin in your body can lead to gallstones.
- In this condition, men with sickle cell anemia can have painful, long-lasting erections. Sickle cells can block the blood vessels in the penis, which can lead to impotence over time.
- Pregnancy complications: Sickle cell anemia can increase the risk of high blood pressure and blood clots during pregnancy. It can also increase the risk of miscarriage, premature birth and having low birth weight babies.
Prevention
If you carry the sickle cell trait, seeing a genetic counselor before trying to conceive can help you understand your risk of having a child with sickle cell anemia. They can also explain possible treatments, preventive measures and reproductive options.
Diagnosis
A blood test can check for the defective form of hemoglobin that underlies sickle cell anemia. In the United States, this blood test is part of routine newborn screening. But older children and adults can be tested, too.
In adults, a blood sample is drawn from a vein in the arm. In young children and babies, the blood sample is usually collected from a finger or heel. The sample is then sent to a laboratory, where it’s screened for the defective hemoglobin.
If you or your child has sickle cell anemia, your doctor might suggest additional tests to check for possible complications of the disease.
If you or your child carries the sickle cell gene, you’ll likely be referred to a genetic counselor.
Assessing stroke risk
Using a special ultrasound machine, doctors can learn which children have a higher risk of stroke. This painless test, which uses sound waves to measure blood flow, can be used in children as young as 2 years. Regular blood transfusions can decrease stroke risk.
Tests to detect sickle cell genes before birth
Sickle cell disease can be diagnosed in an unborn baby by sampling some of the fluid surrounding the baby in the mother’s womb (amniotic fluid). If you or your partner has sickle cell anemia or the sickle cell trait, ask your doctor about this screening.
Treatment
Management of sickle cell anemia is usually aimed at avoiding pain episodes, relieving symptoms and preventing complications. Treatments might include medications and blood transfusions. For some children and teenagers, a stem cell transplant might cure the disease.
Medications
- Hydroxyurea (Droxia, Hydrea, Siklos): Daily hydroxyurea reduces the frequency of painful crises and might reduce the need for blood transfusions and hospitalizations. It can also increase your risk of infections. Don’t take the drug if you’re pregnant.
- L-glutamine oral powder (Endari): The FDA recently approved this drug for treatment of sickle cell anemia. It helps in reducing the frequency of pain crises.
- Crizanlizumab (Adakveo): The FDA recently approved this drug for treatment of sickle cell anemia. Given through a vein, it helps reduce the frequency of pain crises. Side effects can include nausea, joint pain, back pain and fever.
- Pain-relieving medications: Your doctor might prescribe narcotics to help relieve pain during sickle cell pain crises.
- Voxelotor (Oxbryta): The Food and Drug Administration (FDA) recently approved this oral drug to improve anemia in people with sickle cell disease. Side effects can include headache, nausea, diarrhea, fatigue, rash, and fever.
Preventing infections
Children with sickle cell anemia might receive penicillin between the ages of about 2 months old until at least age 5. Doing so helps prevent infections, such as pneumonia, which can be life-threatening to children with sickle cell anemia.
Adults who have sickle cell anemia may need to take penicillin throughout their lives, if they’ve had pneumonia or surgery to remove the spleen.
Childhood vaccinations are important for preventing disease in all children. They’re even more important for children with sickle cell anemia because their infections can be severe.
Your child’s doctor will ensure that your child receives all of the recommended childhood vaccinations, as well vaccines against pneumonia and meningitis and an annual flu shot. Vaccines are also important for adults with sickle cell anemia.
Surgical and other procedures
- Blood transfusions: In a red blood cell transfusion, red blood cells are removed from a supply of donated blood, then given through a vein to a person with sickle cell anemia. This increases the number of normal red blood cells, which helps reduce symptoms and complications.
Risks include an immune response to the donor blood, which can make it hard to find future donors; infection; and excess iron buildup in your body. Because excess iron can damage your heart, liver and other organs, if you undergo regular transfusions, you might need treatment to reduce iron levels.
- Stem cell transplant: Also known as bone marrow transplant, this procedure involves replacing bone marrow affected by sickle cell anemia with healthy bone marrow from a donor. The procedure usually uses a matched donor, such as a sibling, who doesn’t have sickle cell anemia.
Because of the risks associated with a bone marrow transplant, the procedure is recommended only for people, usually children, who have significant symptoms and complications of sickle cell anemia.
The procedure requires a long hospital stay. After the transplant, you’ll receive drugs to help prevent rejection of the donated stem cells. Even so, your body might reject the transplant, leading to life-threatening complications.
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